A321T (p.Ala321Thr) variant of FKRP (Q9H9S5)
A321T (p.Ala321Thr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Walker-Warburg congenital muscular dystrophy; Myopathy caused by variation in FK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A321T (p.Ala321Thr) variant details
- p.Ala321Thr
- rs1300365457
- ClinGen CA406496366
- cosmic curated COSV59359
- ClinVar RCV003067994
- Conflicting interpretations
- Walker-Warburg congenital muscular dystrophy; Myopathy caused by variation in FK
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.72
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Walker-Warburg congenital muscular dystrophy; Myopathy caused by)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available